Genome Diagnostics Laboratory (University Medical Center Utrecht), GDL-UMCU

General information

Genome Diagnostics Laboratory, GDL-UMCU
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
https://www.umcutrecht.nl/en/genoomdiagnostiek
Organization ID: 274978

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 8883

Gene

GeneSubmissionsLast Updated
AARS110Sep 23, 2021
ABCA31Sep 23, 2021
ABCA41Sep 23, 2021
ABCB115Oct 15, 2021
ABCB45Sep 23, 2021
ABCB63Sep 23, 2021
ABCC21Sep 23, 2021
ABCC66Sep 23, 2021
ABCC941Sep 23, 2021
ABCG57Dec 16, 2021
ABCG87Oct 15, 2021
ACAD81Dec 16, 2021
ACAD92Sep 23, 2021
ACADVL1Sep 23, 2021
ACD2Sep 23, 2021
ACE5Dec 16, 2021
ACE21Sep 23, 2021
ACOT91Sep 23, 2021
ACP52Sep 23, 2021
ACSF31Sep 23, 2021
ACTA13Sep 23, 2021
ACTC111Oct 15, 2021
ACTL6B1Sep 23, 2021
ACTN11Sep 23, 2021
ACTN229Dec 16, 2021
ACTN43Sep 23, 2021
ACVR2B4Sep 23, 2021
ACVR2B-AS11Sep 23, 2021
ACVRL17Dec 16, 2021
ADA5Sep 23, 2021
ADA28Sep 23, 2021
ADAM173Oct 15, 2021
ADAMTS131Sep 23, 2021
ADAMTS181Oct 15, 2021
ADAR5Oct 15, 2021
ADGRG41Sep 23, 2021
ADGRV158Sep 23, 2021
ADNP-AS11Oct 15, 2021
ADSL3Oct 15, 2021
AFF22Dec 16, 2021
AFG3L24Dec 16, 2021
AGA2Sep 23, 2021
AGL4Oct 15, 2021
AGPAT22Sep 23, 2021
AGRN1Sep 23, 2021
AGT1Dec 16, 2021
AHI110Dec 16, 2021
AICDA2Apr 17, 2018
AIFM12Oct 15, 2021
AIP4Sep 23, 2021
AIRE21Oct 15, 2021
AKAP923Dec 16, 2021
AKR1D11Sep 23, 2021
AKT21Oct 15, 2021
ALAS21Sep 23, 2021
ALDH18A11Sep 23, 2021
ALDH4A11Sep 23, 2021
ALDH7A17Dec 16, 2021
ALG13Sep 23, 2021
ALG111Sep 23, 2021
ALG1313Sep 23, 2021
ALG62Apr 17, 2018
ALG81Sep 23, 2021
ALG91Sep 23, 2021
ALK3Sep 23, 2021
ALMS154Dec 16, 2021
ALOX12B1Sep 23, 2021
ALOXE32Sep 23, 2021
ALPK37Dec 16, 2021
ALPL1Sep 23, 2021
ALS210Sep 23, 2021
AMER15Sep 23, 2021
AMH2Apr 17, 2018
AMHR21Apr 17, 2018
AMPD21Oct 15, 2021
AMT5Sep 23, 2021
ANG2Sep 23, 2021
ANGPT11Sep 23, 2021
ANK16Apr 17, 2018
ANK234Oct 15, 2021
ANK31Oct 15, 2021
ANKRD118Sep 23, 2021
ANKRD117Oct 15, 2021
ANKRD264Sep 23, 2021
ANKS61Sep 23, 2021
ANLN1Dec 16, 2021
ANO56Dec 16, 2021
ANOS11Sep 23, 2021
AOPEP1Sep 23, 2021
AP1S32Sep 23, 2021
AP3B19Dec 16, 2021
AP3B22Sep 23, 2021
AP3D15Dec 16, 2021
AP4B1-AS13Sep 23, 2021
AP4E11Sep 23, 2021
AP5Z11Sep 23, 2021
APC9Dec 16, 2021
APC21Oct 15, 2021
APOA11Oct 15, 2021
APOA1-AS1Oct 15, 2021
APOA22Sep 23, 2021
APOB4Oct 15, 2021
APOC21Sep 23, 2021
APOC4-APOC21Sep 23, 2021
APOE1Sep 23, 2021
APOL17Oct 15, 2021
APTX7Sep 23, 2021
AQP22Sep 23, 2021
AQP5-AS11Sep 23, 2021
AR12Oct 15, 2021
AREL11Sep 23, 2021
ARFGEF12Oct 15, 2021
ARHGAP311Sep 23, 2021
ARHGEF12Dec 16, 2021
ARHGEF108Sep 23, 2021
ARHGEF61Sep 23, 2021
ARHGEF92Sep 23, 2021
ARID1A1Sep 23, 2021
ARID1B2Sep 23, 2021
ARL13B1Apr 17, 2018
ARL61Sep 23, 2021
ARPC1B1Sep 23, 2021
ARSA18Sep 23, 2021
ARV11Sep 23, 2021
ARX4Sep 23, 2021
ASAH12Sep 23, 2021
ASH1L1Dec 16, 2021
ASIC4-AS11Sep 23, 2021
ASL2Apr 17, 2018
ASPA1Oct 15, 2021
ASPM3Dec 16, 2021
ASXL11Sep 23, 2021
ATL11Sep 23, 2021
ATL31Sep 23, 2021
ATM66Dec 16, 2021
ATN12Sep 23, 2021
ATP11C1Sep 23, 2021
ATP1A27Dec 16, 2021
ATP1A37Sep 23, 2021
ATP2A13Sep 23, 2021
ATP2A23Sep 23, 2021
ATP6AP11Sep 23, 2021
ATP6AP24Sep 23, 2021
ATP6V0A42Sep 23, 2021
ATP6V1B13Sep 23, 2021
ATP7A1Sep 23, 2021
ATP7B23Oct 15, 2021
ATP8B14Oct 15, 2021
ATP8B1-AS11Sep 23, 2021
ATR1Sep 23, 2021
ATRIP3Sep 23, 2021
ATRIP-TREX13Sep 23, 2021
ATRX10Oct 15, 2021
ATXN14Sep 23, 2021
ATXN103Dec 16, 2021
ATXN21Sep 23, 2021
ATXN31Sep 23, 2021
ATXN72Sep 23, 2021
AUTS23Sep 23, 2021
AVP3Sep 23, 2021
AVPR27Dec 16, 2021
AXDND13Sep 23, 2021
AXIN211Dec 16, 2021
B3GAT32Sep 23, 2021
B3GLCT2Sep 23, 2021
B9D21Sep 23, 2021
BACH23Dec 16, 2021
BAG322Oct 15, 2021
BAP11Dec 16, 2021
BBS18Sep 23, 2021
BBS108Sep 23, 2021
BBS128Sep 23, 2021
BBS211Dec 16, 2021
BBS43Sep 23, 2021
BBS54Dec 16, 2021
BBS72Apr 17, 2018
BBS911Sep 23, 2021
BCKDHA1Apr 17, 2018
BCKDHB1Sep 23, 2021
BCOR3Sep 23, 2021
BDNF2Oct 15, 2021
BDNF-AS2Oct 15, 2021
BDNF-AS12Oct 15, 2021
BGN3Sep 23, 2021
BICC11Sep 23, 2021
BICD21Sep 23, 2021
BIVM-ERCC51Sep 23, 2021
BLK4Sep 23, 2021
BLM8Sep 23, 2021
BLOC1S61Apr 17, 2018
BMP151Sep 23, 2021
BMP21Sep 23, 2021
BMP42Sep 23, 2021
BMPR1A1Oct 15, 2021
BPNT21Sep 23, 2021
BRAF1Sep 23, 2021
BRAT11Sep 23, 2021
BRCA1116Dec 16, 2021
BRCA2201Dec 16, 2021
BRD21Sep 23, 2021
BRIP113Sep 23, 2021
BRWD32Sep 23, 2021
BSCL23Dec 16, 2021
BSND1Sep 23, 2021
BTD3Sep 23, 2021
BTK3Sep 23, 2021
BUB1B1Sep 23, 2021
BUB1B-PAK61Sep 23, 2021
C11orf6514Dec 16, 2021
C12orf601Sep 23, 2021
C19orf121Sep 23, 2021
C1QA4Oct 15, 2021
C1QB3Sep 23, 2021
C1R1Sep 23, 2021
C1S3Sep 23, 2021
C1orf1051Oct 15, 2021
C210Sep 23, 2021
C2-AS11Sep 23, 2021
C2CD31Sep 23, 2021
C314Dec 16, 2021
C4A1Sep 23, 2021
C4B1Sep 23, 2021
C53Dec 16, 2021
C64Sep 23, 2021
C72Sep 23, 2021
C8A2Oct 15, 2021
C8B1Sep 23, 2021
C8G1Sep 23, 2021
C94Sep 23, 2021
CA81Sep 23, 2021
CACNA1A38Dec 16, 2021
CACNA1B2Oct 15, 2021
CACNA1C13Oct 15, 2021
CACNA1C-AS14Sep 23, 2021
CACNA1D3Dec 16, 2021
CACNA1G4Oct 15, 2021
CACNA1H26Sep 23, 2021
CACNA1S6Dec 16, 2021
CACNA2D114Sep 23, 2021
CACNA2D1-AS11Sep 23, 2021
CACNB216Sep 23, 2021
CACNB46Dec 16, 2021
CAD1Sep 23, 2021
CALM11Sep 23, 2021
CALM22Dec 16, 2021
CALM32Sep 23, 2021
CALR313Sep 23, 2021
CAPN12Oct 15, 2021
CAPN37Sep 23, 2021
CAPZA11Sep 23, 2021
CARD111Sep 23, 2021
CARD147Dec 16, 2021
CARD92Sep 23, 2021
CARMIL23Sep 23, 2021
CASK3Dec 16, 2021
CASP104Sep 23, 2021
CASP81Sep 23, 2021
CASQ217Oct 15, 2021
CASR7Sep 23, 2021
CAV39Sep 23, 2021
CAVIN11Sep 23, 2021
CBL6Sep 23, 2021
CBR41Sep 23, 2021
CBS5Sep 23, 2021
CBX21Oct 15, 2021
CC2D2A11Dec 16, 2021
CCBE11Sep 23, 2021
CCDC401Sep 23, 2021
CCDC88C2Dec 16, 2021
CCM25Dec 16, 2021
CCNQ2Oct 15, 2021
CCT51Sep 23, 2021
CD1511Sep 23, 2021
CD191Sep 23, 2021
CD2AP2Sep 23, 2021
CD362Dec 16, 2021
CD3D1Sep 23, 2021
CD3E2Sep 23, 2021
CD3G1Sep 23, 2021
CD402Sep 23, 2021
CD40LG2Sep 23, 2021
CD462Sep 23, 2021
CD552Sep 23, 2021
CD592Sep 23, 2021
CD814Dec 16, 2021
CDAN11Sep 23, 2021
CDC61Sep 23, 2021
CDCA71Sep 23, 2021
CDH15Sep 23, 2021
CDKL512Oct 15, 2021
CDKN1A1Sep 23, 2021
CDKN1B1Apr 17, 2018
CDKN1C2Sep 23, 2021
CDKN2A1Sep 23, 2021
CDSN2Sep 23, 2021
CEBPA1Sep 23, 2021
CENPF1Oct 15, 2021
CEP1043Dec 16, 2021
CEP1202Sep 23, 2021
CEP1351Sep 23, 2021
CEP1643Dec 16, 2021
CEP29022Oct 15, 2021
CEP413Sep 23, 2021
CEP832Oct 15, 2021
CEP85L4Sep 23, 2021
CERS13Sep 23, 2021
CFAP4181Oct 15, 2021
CFAP531Sep 23, 2021
CFB11Oct 15, 2021
CFC12Sep 23, 2021
CFH22Dec 16, 2021
CFHR13Sep 23, 2021
CFHR21Oct 15, 2021
CFHR35Sep 23, 2021
CFHR43Sep 23, 2021
CFHR55Oct 15, 2021
CFI8Dec 16, 2021
CFL21Sep 23, 2021
CFP3Sep 23, 2021
CFTR13Dec 16, 2021
CFTR-AS14Dec 16, 2021
CHAT2Dec 16, 2021
CHCHD102Sep 23, 2021
CHD24Sep 23, 2021
CHD715Dec 16, 2021
CHD81Sep 23, 2021
CHEK27Dec 16, 2021
CHKB1Sep 23, 2021
CHKB-CPT1B3Sep 23, 2021
CHMP2B1Sep 23, 2021
CHRNA21Apr 17, 2018
CHRNA45Sep 23, 2021
CHRNB11Sep 23, 2021
CHRNB21Sep 23, 2021
CHRND1Sep 23, 2021
CHRNG1Sep 23, 2021
CHSY11Sep 23, 2021
CIC2Sep 23, 2021
CIITA2Sep 23, 2021
CITED21Oct 15, 2021
CLCN12Sep 23, 2021
CLCN25Dec 16, 2021
CLCN72Sep 23, 2021
CLCNKB4Oct 15, 2021
CLDN161Sep 23, 2021
CLDN192Sep 23, 2021
CLDN21Sep 23, 2021
CLEC4D1Sep 23, 2021
CLEC7A1Sep 23, 2021
CLN38Sep 23, 2021
CLN56Sep 23, 2021
CLN64Dec 16, 2021
CLN84Sep 23, 2021
CLPB1Sep 23, 2021
CNKSR21Sep 23, 2021
CNNM21Oct 15, 2021
CNTN11Sep 23, 2021
CNTNAP219Sep 23, 2021
COG63Sep 23, 2021
COL11A14Sep 23, 2021
COL11A22Oct 15, 2021
COL12A11Sep 23, 2021
COL1A18Oct 15, 2021
COL1A23Oct 15, 2021
COL3A110Sep 23, 2021
COL4A15Oct 15, 2021
COL4A21Sep 23, 2021
COL4A326Dec 16, 2021
COL4A422Oct 15, 2021
COL4A57Oct 15, 2021
COL5A129Dec 16, 2021
COL5A220Dec 16, 2021
COL6A112Dec 16, 2021
COL6A26Sep 23, 2021
COL6A316Dec 16, 2021
COLEC111Sep 23, 2021
COLQ1Sep 23, 2021
COMT1Sep 23, 2021
COPA1Sep 23, 2021
COQ24Sep 23, 2021
COQ8A2Dec 16, 2021
COQ8B1Sep 23, 2021
COQ91Sep 23, 2021
CORO1A5Oct 15, 2021
CPEB1-AS12Sep 23, 2021
CPLANE110Oct 15, 2021
CPS17Sep 23, 2021
CPT1A1Apr 17, 2018
CPT1B2Sep 23, 2021
CPT24Oct 15, 2021
CR24Dec 16, 2021
CRB210Oct 15, 2021
CREBBP6Sep 23, 2021
CRELD14Sep 23, 2021
CRPPA2Sep 23, 2021
CRPPA-AS11Sep 23, 2021
CRYAB8Sep 23, 2021
CSF2RA2Sep 23, 2021
CSF2RB3Sep 23, 2021
CSF3R4Sep 23, 2021
CSPP12Oct 15, 2021
CSRP311Sep 23, 2021
CSTB1Apr 17, 2018
CTC15Dec 16, 2021
CTDP16Sep 23, 2021
CTNNA325Oct 15, 2021
CTNS2Sep 23, 2021
CTSA1Sep 23, 2021
CTSC2Sep 23, 2021
CTSD6Sep 23, 2021
CUBN9Oct 15, 2021
CUL4B3Sep 23, 2021
CXCR42Sep 23, 2021
CYBA1Sep 23, 2021
CYBB1Sep 23, 2021
CYP11B11Sep 23, 2021
CYP11B24Oct 15, 2021
CYP19A11Sep 23, 2021
CYP21A21Dec 16, 2021
CYP24A12Sep 23, 2021
CYP27A12Oct 15, 2021
CYP7B11Sep 23, 2021
D2HGDH1Sep 23, 2021
DAG12Dec 16, 2021
DARS21Dec 16, 2021
DBNL1Sep 23, 2021
DBT6Sep 23, 2021
DCAF171Sep 23, 2021
DCDC21Sep 23, 2021
DCHS15Sep 23, 2021
DCLRE1C4Sep 23, 2021
DCTN14Oct 15, 2021
DCX3Sep 23, 2021
DDX111Sep 23, 2021
DDX3X1Sep 23, 2021
DDX531Sep 23, 2021
DDX582Sep 23, 2021
DDX593Dec 16, 2021
DEAF11Sep 23, 2021
DEPDC510Sep 23, 2021
DES23Dec 16, 2021
DGAT13Oct 15, 2021
DGAT21Sep 23, 2021
DGKE3Oct 15, 2021
DGUOK1Sep 23, 2021
DHCR78Oct 15, 2021
DHODH1Sep 23, 2021
DHTKD11Sep 23, 2021
DIAPH12Oct 15, 2021
DICER18Dec 16, 2021
DKC12Sep 23, 2021
DLAT1Apr 17, 2018
DLC11Dec 16, 2021
DLD1Sep 23, 2021
DM1-AS1Sep 23, 2021
DMD49Dec 16, 2021
DMP12Oct 15, 2021
DMPK2Sep 23, 2021
DNAAF32Sep 23, 2021
DNAH53Sep 23, 2021
DNAJB21Oct 15, 2021
DNAJB61Sep 23, 2021
DNAJC212Sep 23, 2021
DNAJC51Sep 23, 2021
DNASE11Sep 23, 2021
DNASE1L31Sep 23, 2021
DNM12Dec 16, 2021
DNM26Sep 23, 2021
DNMT110Oct 15, 2021
DNMT3B4Dec 16, 2021
DOCK26Dec 16, 2021
DOCK61Sep 23, 2021
DOCK824Dec 16, 2021
DOK71Sep 23, 2021
DOLK1Oct 15, 2021
DPAGT11Sep 23, 2021
DPM11Oct 15, 2021
DPP65Sep 23, 2021
DPYD2Apr 17, 2018
DSC232Dec 16, 2021
DSCAS1Apr 17, 2018
DSG256Dec 16, 2021
DSG2-AS119Sep 23, 2021
DSP76Dec 16, 2021
DSP-AS14Sep 23, 2021
DST12Dec 16, 2021
DTNA17Oct 15, 2021
DTNBP12Sep 23, 2021
DUSP291Sep 23, 2021
DYNC1H16Oct 15, 2021
DYNC2H15Dec 16, 2021
DYNC2I11Sep 23, 2021
DYNC2LI14Dec 16, 2021
DYSF15Dec 16, 2021
EDA2Sep 23, 2021
EDAR2Sep 23, 2021
EEF21Sep 23, 2021
EFEMP25Oct 15, 2021
EFHC12Sep 23, 2021
EGF3Sep 23, 2021
EGFR1Sep 23, 2021
EHMT11Sep 23, 2021
EIF2AK35Sep 23, 2021
ELAC21Oct 15, 2021
ELF41Dec 16, 2021
ELN18Sep 23, 2021
ELN-AS13Sep 23, 2021
ELP111Sep 23, 2021
EMD8Oct 15, 2021
EMILIN11Sep 23, 2021
ENG8Sep 23, 2021
ENPP12Sep 23, 2021
EPB411Sep 23, 2021
EPCAM3Oct 15, 2021
EPG58Sep 23, 2021
EPM2A3Sep 23, 2021
EPM2A-DT1Sep 23, 2021
ERBB41Sep 23, 2021
ERCC21Sep 23, 2021
ERCC33Oct 15, 2021
ERCC51Sep 23, 2021
ERCC62Oct 15, 2021
ERCC6L22Dec 16, 2021
ESCO21Sep 23, 2021
ESR27Sep 23, 2021
ETFB1Apr 17, 2018
EVC9Dec 16, 2021
EVC27Dec 16, 2021
EXOSC31Sep 23, 2021
EYA14Sep 23, 2021
EYA46Sep 23, 2021
F122Sep 23, 2021
F813Sep 23, 2021
FA2H1Apr 17, 2018
FAAP241Sep 23, 2021
FADD2Sep 23, 2021
FAH6Dec 16, 2021
FAM111A1Oct 15, 2021
FAM189A11Sep 23, 2021
FAM20C1Sep 23, 2021
FAM83H2Apr 17, 2018
FAN15Sep 23, 2021
FANCA3Sep 23, 2021
FANCC2Sep 23, 2021
FANCF1Sep 23, 2021
FANCG3Dec 16, 2021
FANCI4Oct 15, 2021
FARS21Sep 23, 2021
FAS6Sep 23, 2021
FASLG1Sep 23, 2021
FAT17Dec 16, 2021
FAT48Dec 16, 2021
FBLN52Oct 15, 2021
FBN124Dec 16, 2021
FBN239Dec 16, 2021
FBXL33Sep 23, 2021
FBXO382Sep 23, 2021
FCGR1A1Sep 23, 2021
FCGR2A3Sep 23, 2021
FCGR2B1Sep 23, 2021
FCGR3A1Sep 23, 2021
FCN34Oct 15, 2021
FERMT34Sep 23, 2021
FGA1Sep 23, 2021
FGD16Sep 23, 2021
FGD43Sep 23, 2021
FGF122Sep 23, 2021
FGF142Apr 17, 2018
FGF81Sep 23, 2021
FGFR13Sep 23, 2021
FGFR25Sep 23, 2021
FGFR33Sep 23, 2021
FH6Dec 16, 2021
FHL19Sep 23, 2021
FIG414Dec 16, 2021
FKRP1Sep 23, 2021
FKTN10Sep 23, 2021
FLCN7Sep 23, 2021
FLNA42Dec 16, 2021
FLNC98Dec 16, 2021
FLNC-AS136Dec 16, 2021
FN11Sep 23, 2021
FOLR11Apr 17, 2018
FOXE12Apr 17, 2018
FOXE34Oct 15, 2021
FOXG11Apr 17, 2018
FOXH13Sep 23, 2021
FOXI11Dec 16, 2021
FOXN11Sep 23, 2021
FOXP31Sep 23, 2021
FPR11Sep 23, 2021
FRAS153Oct 15, 2021
FREM118Dec 16, 2021
FREM217Oct 15, 2021
FTCD1Sep 23, 2021
FTL1Dec 16, 2021
FUS7Sep 23, 2021
FXYD21Sep 23, 2021
FXYD6-FXYD21Sep 23, 2021
G6PC13Sep 23, 2021
G6PC32Sep 23, 2021
G6PD2Sep 23, 2021
GAA40Dec 16, 2021
GABRA11Sep 23, 2021
GABRB31Sep 23, 2021
GABRD1Sep 23, 2021
GABRG21Sep 23, 2021
GALC1Sep 23, 2021
GALK15Dec 16, 2021
GALT3Sep 23, 2021
GAMT3Oct 15, 2021
GAN2Sep 23, 2021
GANAB1Dec 16, 2021
GARS12Sep 23, 2021
GATA12Sep 23, 2021
GATA25Sep 23, 2021
GATA31Sep 23, 2021
GATA413Dec 16, 2021
GATA51Dec 16, 2021
GATA63Dec 16, 2021
GATAD16Oct 15, 2021
GATM1Oct 15, 2021
GBA1Sep 23, 2021
GBA21Sep 23, 2021
GBE15Oct 15, 2021
GCLC1Sep 23, 2021
GCSH1Sep 23, 2021
GDF13Sep 23, 2021
GFI17Dec 16, 2021
GFRA11Dec 16, 2021
GH-LCR4Sep 23, 2021
GJA12Sep 23, 2021
GJB13Sep 23, 2021
GJB32Sep 23, 2021
GJC22Sep 23, 2021
GJD2-DT11Oct 15, 2021
GLA16Dec 16, 2021
GLB12Sep 23, 2021
GLDC13Sep 23, 2021
GLE11Sep 23, 2021
GLI22Sep 23, 2021
GLI36Dec 16, 2021
GLIS34Dec 16, 2021
GLRA11Apr 17, 2018
GLRB1Apr 17, 2018
GML1Sep 23, 2021
GNAO11Sep 23, 2021
GNAS10Oct 15, 2021
GNPTAB2Sep 23, 2021
GOSR24Sep 23, 2021
GP1BA2Sep 23, 2021
GPC313Sep 23, 2021
GPD1L3Sep 23, 2021
GPHN2Apr 17, 2018
GREM11Sep 23, 2021
GRHL21Sep 23, 2021
GRIA33Sep 23, 2021
GRIN11Sep 23, 2021
GRIN2A9Sep 23, 2021
GRIN2B6Sep 23, 2021
GRIN2D2Sep 23, 2021
GRIP19Oct 15, 2021
GRM12Dec 16, 2021
GRN5Sep 23, 2021
GSN4Dec 16, 2021
GUCY2C1Sep 23, 2021
GYS11Dec 16, 2021
H2BC181Sep 23, 2021
HAND11Sep 23, 2021
HAVCR21Dec 16, 2021
HAX11Sep 23, 2021
HBA-LCR4Dec 16, 2021
HBB3Oct 15, 2021
HCFC112Sep 23, 2021
HCN14Oct 15, 2021
HCN421Oct 15, 2021
HDAC81Sep 23, 2021
HEATR31Nov 3, 2021
HERC21Sep 23, 2021
HESX11Sep 23, 2021
HFE2Sep 23, 2021
HFE-AS11Sep 23, 2021
HGF1Apr 17, 2018
HGSNAT1Apr 17, 2018
HINT11Sep 23, 2021
HK15Oct 15, 2021
HLA-DRB11Sep 23, 2021
HMBS1Sep 23, 2021
HMOX12Sep 23, 2021
HNF1A3Sep 23, 2021
HNF1B7Dec 16, 2021
HNF4A4Dec 16, 2021
HNRNPA12Sep 23, 2021
HNRNPU1Dec 16, 2021
HNRNPUL2-BSCL23Dec 16, 2021
HOXA132Oct 15, 2021
HPRT11Sep 23, 2021
HPS12Sep 23, 2021
HPS31Sep 23, 2021
HPS42Sep 23, 2021
HPS54Sep 23, 2021
HPSE21Sep 23, 2021
HSD3B71Sep 23, 2021
HSPB12Oct 15, 2021
HSPB82Sep 23, 2021
HSPG212Oct 15, 2021
HTT2Dec 16, 2021
HUWE19Dec 16, 2021
HYOU11Sep 23, 2021
IAH11Oct 15, 2021
IDS2Sep 23, 2021
IDUA5Oct 15, 2021
IFIH16Dec 16, 2021
IFNAR21Sep 23, 2021
IFNGR11Sep 23, 2021
IFNGR22Apr 17, 2018
IFRD13Sep 23, 2021
IFT1222Sep 23, 2021
IFT1404Sep 23, 2021
IFT1726Dec 16, 2021
IFT431Sep 23, 2021
IFT741Oct 15, 2021
IFT812Dec 16, 2021
IGF11Dec 16, 2021
IGF1R2Sep 23, 2021
IGHMBP26Dec 16, 2021
IGLL11Sep 23, 2021
IGSF12Sep 23, 2021
IKBKB3Sep 23, 2021
IKBKG4Dec 16, 2021
IL101Sep 23, 2021
IL10RA11Sep 23, 2021
IL10RB2Sep 23, 2021
IL12RB16Sep 23, 2021
IL17RA7Dec 16, 2021
IL17RC7Sep 23, 2021
IL191Sep 23, 2021
IL1RN4Sep 23, 2021
IL21R1Sep 23, 2021
IL2RA2Sep 23, 2021
IL2RB3Oct 15, 2021
IL2RG2Sep 23, 2021
IL36RN1Sep 23, 2021
IL6ST1Sep 23, 2021
IL7R3Sep 23, 2021
ILK7Oct 15, 2021
INF211Sep 23, 2021
INO805Dec 16, 2021
INO80-AS11Sep 23, 2021
INPP5E8Oct 15, 2021
INPP5K1Sep 23, 2021
INSL63Dec 16, 2021
INSR4Dec 16, 2021
INTS84Sep 23, 2021
INVS3Dec 16, 2021
IQCB15Sep 23, 2021
IQSEC28Sep 23, 2021
IRAK13Sep 23, 2021
IRAK41Sep 23, 2021
IRF2BP21Sep 23, 2021
IRF2BPL6Dec 16, 2021
IRF74Oct 15, 2021
IRF84Oct 15, 2021
IRS13Apr 17, 2018
IRS21Sep 23, 2021
IRS44Sep 23, 2021
ITCH2Sep 23, 2021
ITGA2B1Dec 16, 2021
ITGA33Sep 23, 2021
ITGA72Dec 16, 2021
ITGB24Dec 16, 2021
ITGB49Dec 16, 2021
ITK4Sep 23, 2021
ITPR17Dec 16, 2021
IVD1Dec 16, 2021
JAG115Dec 16, 2021
JAK12Sep 23, 2021
JAK23Dec 16, 2021
JAK35Sep 23, 2021
JPH216Oct 15, 2021
JPH31Sep 23, 2021
JUP28Sep 23, 2021
KANK17Oct 15, 2021
KANK21Sep 23, 2021
KARS16Sep 23, 2021
KAT6A1Dec 16, 2021
KAT6B1Sep 23, 2021
KATNIP4Dec 16, 2021
KBTBD133Sep 23, 2021
KCNA11Oct 15, 2021
KCNA21Sep 23, 2021
KCNA51Sep 23, 2021
KCNB11Oct 15, 2021
KCNC11Sep 23, 2021
KCNC37Sep 23, 2021
KCND34Sep 23, 2021
KCNE15Sep 23, 2021
KCNE22Sep 23, 2021
KCNE31Apr 17, 2018
KCNH12Sep 23, 2021
KCNH216Dec 16, 2021
KCNJ11Sep 23, 2021
KCNJ101Sep 23, 2021
KCNJ112Sep 23, 2021
KCNJ21Sep 23, 2021
KCNJ54Sep 23, 2021
KCNJ81Apr 17, 2018
KCNMA18Dec 16, 2021
KCNMA1-AS14Dec 16, 2021
KCNQ117Dec 16, 2021
KCNQ1-AS12Sep 23, 2021
KCNQ1OT12Sep 23, 2021
KCNQ216Dec 16, 2021
KCNQ38Sep 23, 2021
KCNQ53Dec 16, 2021
KCNT123Sep 23, 2021
KCTD72Sep 23, 2021
KDM5C6Oct 15, 2021
KDM6A3Sep 23, 2021
KIAA05864Dec 16, 2021
KIAA07531Dec 16, 2021
KIAA12101Sep 23, 2021
KIDINS2201Sep 23, 2021
KIF141Sep 23, 2021
KIF1A10Dec 16, 2021
KIF1B15Oct 15, 2021
KIF1C2Dec 16, 2021
KIF21A1Sep 23, 2021
KIF5A4Sep 23, 2021
KIF721Dec 16, 2021
KIRREL21Sep 23, 2021
KIT1Oct 15, 2021
KLKB11Sep 23, 2021
KMT2A3Sep 23, 2021
KMT2D13Dec 16, 2021
KRAS2Sep 23, 2021
KRIT18Sep 23, 2021
LAMA12Sep 23, 2021
LAMA26Oct 15, 2021
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UPB11Apr 17, 2018
UPK3A3Apr 17, 2018
VAMP11Sep 23, 2021
VANGL12Apr 17, 2018
VAPB2Sep 23, 2021
VAV12Sep 23, 2021
VCL34Dec 16, 2021
VCP15Dec 16, 2021
VHL12Sep 23, 2021
VPS13A1Sep 23, 2021
VPS13B31Dec 16, 2021
VPS33B4Oct 15, 2021
VPS37A1Oct 15, 2021
VPS452Dec 16, 2021
VRK12Oct 15, 2021
VWF17Dec 16, 2021
WARS11Sep 23, 2021
WAS2Sep 23, 2021
WASHC55Sep 23, 2021
WBP41Sep 23, 2021
WDPCP7Dec 16, 2021
WDR13Dec 16, 2021
WDR1911Dec 16, 2021
WDR352Oct 15, 2021
WDR451Sep 23, 2021
WDR811Dec 16, 2021
WHRN1Sep 23, 2021
WIPF11Sep 23, 2021
WNK113Dec 16, 2021
WNT10A4Dec 16, 2021
WRAP532Sep 23, 2021
WRN1Sep 23, 2021
WT116Oct 15, 2021
WWOX6Dec 16, 2021
XDH9Dec 16, 2021
XIAP2Sep 23, 2021
XIRP22Sep 23, 2021
XPNPEP31Oct 15, 2021
XRCC51Sep 23, 2021
YARS11Sep 23, 2021
ZAP703Sep 23, 2021
ZDHHC151Sep 23, 2021
ZDHHC245Sep 23, 2021
ZDHHC92Sep 23, 2021
ZEB26Oct 15, 2021
ZFPM22Sep 23, 2021
ZFPM2-AS11Sep 23, 2021
ZFYVE266Oct 15, 2021
ZFYVE272Sep 23, 2021
ZIC34Sep 23, 2021
ZMPSTE241Dec 16, 2021
ZNF3412Oct 15, 2021
ZNF341-AS11Sep 23, 2021
ZNF4235Oct 15, 2021
ZNF6271Sep 23, 2021

Condition

NameSubmissionsLast Updated
46,XY sex reversal, type 61Apr 17, 2018
ALG1-CDG2Apr 17, 2018
Abetalipoproteinaemia4Apr 17, 2018
Abnormal facial shape2Feb 6, 2019
Aicardi Goutieres syndrome 32Apr 17, 2018
Aicardi Goutieres syndrome 42Apr 17, 2018
Amelogenesis imperfecta, hypocalcification type2Apr 17, 2018
Amyotrophic lateral sclerosis type 11Apr 17, 2018
Amyotrophic lateral sclerosis type 102Apr 17, 2018
Aortic aneurysm, familial thoracic 420Apr 17, 2018
Argininosuccinate lyase deficiency2Apr 17, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 1115Apr 17, 2018
Arrhythmogenic right ventricular dysplasia 924Apr 17, 2018
Arterial tortuosity syndrome3Apr 17, 2018
Ataxia-telangiectasia syndrome16Apr 17, 2018
Ataxia-telangiectasia-like disorder 12Apr 17, 2018
Atypical hemolytic-uremic syndrome 21Apr 17, 2018
Autoimmune disease, syndromic multisystem1Apr 17, 2018
Autoimmune lymphoproliferative syndrome type 13Apr 17, 2018
Autosomal recessive cutis laxa type 1B1Apr 17, 2018
Autosomal recessive osteopetrosis 11Apr 17, 2018
Autosomal recessive polycystic kidney disease7Apr 17, 2018
Bamforth-Lazarus syndrome2Apr 17, 2018
Bardet-Biedl syndrome 130Apr 17, 2018
Benign familial neonatal seizures 22Apr 17, 2018
Biotin-responsive basal ganglia disease3Apr 17, 2018
Branchiootorenal syndrome 21Apr 17, 2018
Breast-ovarian cancer, familial 152Apr 17, 2018
Breast-ovarian cancer, familial 2141Apr 17, 2018
Brugada syndrome 411Apr 17, 2018
Brugada syndrome 61Apr 17, 2018
C1q deficiency2Apr 17, 2018
Cardiac arrhythmia, ankyrin B-related17Apr 17, 2018
Cardiomyopathy, dilated, 2b2Apr 17, 2018
Carnitine palmitoyltransferase 1A deficiency1Apr 17, 2018
Cerebral cavernous malformation4Apr 17, 2018
Cerebral cavernous malformations 24Apr 17, 2018
Cerebral folate transport deficiency1Apr 17, 2018
Ceroid lipofuscinosis neuronal 22Apr 17, 2018
Charcot-Marie-Tooth disease type 2B21Apr 17, 2018
Charcot-Marie-Tooth disease, recessive intermediate B2Apr 17, 2018
Charcot-Marie-Tooth disease, type 2N4Apr 17, 2018
Charcot-Marie-Tooth disease, type 4B13Apr 17, 2018
Charcot-Marie-Tooth disease, type 4B21Apr 17, 2018
Charlevoix-Saguenay spastic ataxia2Apr 17, 2018
Chédiak-Higashi syndrome9Apr 17, 2018
Classic homocystinuria2Apr 17, 2018
Cleft palate, isolated1Apr 17, 2018
Coenzyme Q10 deficiency, primary, 21Apr 17, 2018
Cohen syndrome15Apr 17, 2018
Common variable immunodeficiency 41Apr 17, 2018
Common variable immunodeficiency 8, with autoimmunity2Apr 17, 2018
Complement component 9 deficiency1Apr 17, 2018
Congenital contractural arachnodactyly17Apr 17, 2018
Congenital defect of folate absorption1Apr 17, 2018
Congenital disorder of glycosylation type 1C2Apr 17, 2018
Congenital disorder of glycosylation, type Ia6Apr 17, 2018
Congenital hyperammonemia, type I5Apr 17, 2018
Congenital microvillous atrophy4Apr 17, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Apr 17, 2018
Congenital total pulmonary venous return anomaly9Apr 17, 2018
Cornelia de Lange syndrome 41Apr 17, 2018
Deafness, autosomal recessive 391Apr 17, 2018
Deficiency of beta-ureidopropionase1Apr 17, 2018
Deficiency of malonyl-CoA decarboxylase1Apr 17, 2018
Diamond-Blackfan anemia1Nov 3, 2021
Dihydropyrimidine dehydrogenase deficiency2Apr 17, 2018
Dilated cardiomyopathy 1AA1Apr 17, 2018
Dilated cardiomyopathy 1JJ8Apr 17, 2018
Dilated cardiomyopathy 1KK15Apr 17, 2018
Dilated cardiomyopathy 1T3Apr 17, 2018
Early infantile epileptic encephalopathy 107Apr 17, 2018
Early infantile epileptic encephalopathy 127Apr 17, 2018
Ectodermal dysplasia and immunodeficiency 21Apr 17, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant21Apr 17, 2018
Epilepsy, childhood absence 65Apr 17, 2018
Epilepsy, familial focal, with variable foci 11Apr 17, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation3Apr 17, 2018
Epilepsy, nocturnal frontal lobe, type 12Apr 17, 2018
Epilepsy, nocturnal frontal lobe, type 41Apr 17, 2018
Epilepsy, progressive myoclonic 51Apr 17, 2018
Familial cold autoinflammatory syndrome 23Apr 17, 2018
Familial dysautonomia6Apr 17, 2018
Familial hemophagocytic lymphohistiocytosis 21Apr 17, 2018
Familial hypercholesterolemia 12Apr 17, 2018
Familial hypercholesterolemia 32Apr 17, 2018
Familial hypertrophic cardiomyopathy 13Apr 17, 2018
Familial hypertrophic cardiomyopathy 104Apr 17, 2018
Familial hypertrophic cardiomyopathy 166Apr 17, 2018
Familial hypertrophic cardiomyopathy 179Apr 17, 2018
Familial hypertrophic cardiomyopathy 198Apr 17, 2018
Familial hypertrophic cardiomyopathy 444Apr 17, 2018
Familial hypertrophic cardiomyopathy 82Apr 17, 2018
Familial hypokalemia-hypomagnesemia2Apr 17, 2018
Familial platelet disorder with associated myeloid malignancy1Apr 17, 2018
Fibrous dysplasia of jaw2Apr 17, 2018
Finnish congenital nephrotic syndrome4Apr 17, 2018
Focal segmental glomerulosclerosis 11Apr 17, 2018
Focal segmental glomerulosclerosis 3, susceptibility to1Apr 17, 2018
Fraser syndrome 18Apr 17, 2018
Glaucoma 1, open angle, p2Apr 17, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Apr 17, 2018
Glycogen storage disease type III1Apr 17, 2018
Hemophagocytic lymphohistiocytosis, familial, 51Apr 17, 2018
Hepatic veno-occlusive disease-immunodeficiency syndrome1Apr 17, 2018
Hereditary angioedema type 12Apr 17, 2018
Hereditary nonpolyposis colorectal cancer type 411Apr 17, 2018
Hereditary nonpolyposis colorectal cancer type 54Apr 17, 2018
Hereditary spastic paraplegia 102Apr 17, 2018
Hereditary spastic paraplegia 151Apr 17, 2018
Hereditary spastic paraplegia 391Apr 17, 2018
Hereditary spastic paraplegia 71Apr 17, 2018
Hereditary xanthinuria type 11Apr 17, 2018
Hermansky-Pudlak syndrome 41Apr 17, 2018
Hermansky-Pudlak syndrome 51Apr 17, 2018
Hermansky-Pudlak syndrome 91Apr 17, 2018
Herpes simplex encephalitis 11Apr 17, 2018
Herpes simplex encephalitis 21Apr 17, 2018
Heterotaxy, visceral, 4, autosomal3Apr 17, 2018
Histiocytosis-lymphadenopathy plus syndrome1Apr 17, 2018
Hydatidiform mole, recurrent, 15Apr 17, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Apr 17, 2018
Hyper-IgM syndrome type 22Apr 17, 2018
Hyper-IgM syndrome type 31Apr 17, 2018
Hyper-IgM syndrome type 51Apr 17, 2018
Hypercalcemia, infantile, 11Apr 17, 2018
Hyperekplexia 11Apr 17, 2018
Hyperekplexia 21Apr 17, 2018
Hyperekplexia 32Apr 17, 2018
Hyperostosis2Feb 6, 2019
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Apr 17, 2018
Ichthyosis, congenital, autosomal recessive 112Apr 17, 2018
Immunodeficiency 27A6Apr 17, 2018
Immunodeficiency 511Apr 17, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Apr 17, 2018
Inflammatory bowel disease 28, autosomal recessive4Apr 17, 2018
Isolated lutropin deficiency4Apr 17, 2018
Joubert syndrome 161Apr 17, 2018
Joubert syndrome 172Apr 17, 2018
Joubert syndrome 201Apr 17, 2018
Joubert syndrome 81Apr 17, 2018
KBG syndrome2Apr 17, 2018
Kabuki syndrome 11Apr 17, 2018
Lafora disease2Apr 17, 2018
Left ventricular noncompaction 18Apr 17, 2018
Left ventricular noncompaction 74Apr 17, 2018
Leptin receptor deficiency3Apr 17, 2018
Leukocyte adhesion deficiency, type III1Apr 17, 2018
Limb-girdle muscular dystrophy, type 2A2Apr 17, 2018
Loeys-Dietz syndrome 42Apr 17, 2018
Long QT syndrome 1111Apr 17, 2018
Long QT syndrome 122Apr 17, 2018
Lymphoproliferative syndrome 13Apr 17, 2018
Lynch syndrome I2Apr 17, 2018
Lysosomal acid lipase deficiency1Apr 17, 2018
Majeed syndrome4Apr 17, 2018
Malignant tumor of esophagus1Apr 17, 2018
Maple syrup urine disease3Apr 17, 2018
Meckel syndrome type 81Apr 17, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Apr 17, 2018
Mental retardation, autosomal dominant 52Apr 17, 2018
Mental retardation, autosomal dominant 63Apr 17, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Apr 17, 2018
Microcephalic osteodysplastic primordial dwarfism type II1Apr 17, 2018
Mitochondrial DNA depletion syndrome 21Apr 17, 2018
Mitochondrial complex I deficiency1Apr 17, 2018
Molybdenum cofactor deficiency, complementation group A2Apr 17, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 17, 2018
Multiple acyl-CoA dehydrogenase deficiency1Apr 17, 2018
Multiple endocrine neoplasia, type 41Apr 17, 2018
Multiple gastrointestinal atresias1Apr 17, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Apr 17, 2018
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Apr 17, 2018
Nemaline myopathy 51Apr 17, 2018
Nemaline myopathy 61Apr 17, 2018
Nephrogenic diabetes insipidus, autosomal1Apr 17, 2018
Nephronophthisis 141Apr 17, 2018
Nephrotic syndrome, type 37Apr 17, 2018
Netherton syndrome2Apr 17, 2018
Neuronal ceroid lipofuscinosis 105Apr 17, 2018
Neuronal ceroid lipofuscinosis 71Apr 17, 2018
Niemann-Pick disease type C18Apr 17, 2018
Nijmegen breakage syndrome-like disorder1Apr 17, 2018
Non-ketotic hyperglycinemia2Apr 17, 2018
Oligodontia2Feb 6, 2019
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2Apr 17, 2018
Persistent Mullerian duct syndrome3Apr 17, 2018
Phenylketonuria13Apr 17, 2018
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Apr 17, 2018
Phytanic acid storage disease1Apr 17, 2018
Polycystic liver disease 11Apr 17, 2018
Progressive familial heart block type IB1Apr 17, 2018
Propionic acidemia1Apr 17, 2018
Proteasome-associated autoinflammatory syndrome 11Apr 17, 2018
Pyridoxine-dependent epilepsy5Apr 17, 2018
Pyruvate dehydrogenase E2 deficiency1Apr 17, 2018
Renal hypodysplasia/aplasia 13Apr 17, 2018
Rett syndrome, congenital variant1Apr 17, 2018
SUDDEN INFANT DEATH SYNDROME1Apr 17, 2018
Saldino-Mainzer syndrome2Apr 17, 2018
Schimke immuno-osseous dysplasia1Apr 17, 2018
Schuurs-hoeijmakers syndrome1Apr 17, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Apr 17, 2018
Severe combined immunodeficiency due to ADA deficiency2Apr 17, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1Apr 17, 2018
Short stature2Feb 6, 2019
Short-rib thoracic dysplasia 6 with or without polydactyly2Apr 17, 2018
Shwachman-Diamond syndrome 13Apr 17, 2018
Slowed nerve conduction velocity, autosomal dominant5Apr 17, 2018
Smith-Lemli-Opitz syndrome3Apr 17, 2018
Spastic paraplegia 11, autosomal recessive12Apr 17, 2018
Spastic paraplegia 33, autosomal dominant1Apr 17, 2018
Spastic paraplegia 351Apr 17, 2018
Spastic paraplegia 4, autosomal dominant2Apr 17, 2018
Spherocytosis type 16Apr 17, 2018
Spinal muscular atrophy, distal, autosomal recessive, 13Apr 17, 2018
Spinocerebellar ataxia type 11Apr 17, 2018
Spinocerebellar ataxia type 135Apr 17, 2018
Spinocerebellar ataxia type 144Apr 17, 2018
Spinocerebellar ataxia type 172Apr 17, 2018
Spinocerebellar ataxia type 232Apr 17, 2018
Spinocerebellar ataxia type 272Apr 17, 2018
Telangiectasia, hereditary hemorrhagic, type 23Apr 17, 2018
Tooth agenesis, selective, 32Apr 17, 2018
Townes-Brocks syndrome 14Apr 17, 2018
Transcolabamin II deficiency1Apr 17, 2018
Type 2 diabetes mellitus3Apr 17, 2018
Unverricht-Lundborg syndrome1Apr 17, 2018
Van den Ende-Gupta syndrome1Apr 17, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 213Apr 17, 2018
Vesicoureteral reflux 22Apr 17, 2018
Vici syndrome2Apr 17, 2018
not provided5366Dec 16, 2021
not specified2536Dec 16, 2021

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
46,XY sex reversal, type 31 test
ANKRD1-related dilated cardiomyopathy1 test
Aarskog syndrome1 test
Acne inversa, familial, 21 test
Acquired hemoglobin H disease1 test
Acromicric dysplasia1 test
Acute myeloid leukemia1 test
Adenylosuccinate lyase deficiency1 test
Adult neuronal ceroid lipofuscinosis1 test
Adult proximal spinal muscular atrophy, autosomal dominant1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 6, autosomal recessive1 test
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 41 test
Aicardi Goutieres syndrome 51 test
Alagille syndrome 11 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-B crystallinopathy2 tests
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alternating hemiplegia of childhood 11 test
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelogenesis imperfecta, hypomaturation type IIA41 test
Amelogenesis imperfecta, hypomaturation type, IIA11 test
Amelogenesis imperfecta, hypomaturation type, IIA31 test
Amelogenesis imperfecta, type 1E1 test
Amelogenesis imperfecta, type IC1 test
Amelogenesis imperfecta, type IV1 test
Amyloidogenic transthyretin amyloidosis2 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 171 test
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 2, juvenile2 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome2 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
Arrhythmogenic right ventricular dysplasia 83 tests
Arrhythmogenic right ventricular dysplasia 93 tests
Arrhythmogenic right ventricular dysplasia, familial 13 tests
Arrhythmogenic right ventricular dysplasia, familial, 22 tests
Arterial tortuosity syndrome1 test
Ataxia-oculomotor apraxia type 11 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 133 tests
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 21 test
Atrial septal defect 32 tests
Atrial septal defect 41 test
Atrial septal defect 52 tests
Atrial septal defect 7 with or without atrioventricular conduction defects1 test
Atrioventricular septal defect 21 test
Atrioventricular septal defect 31 test
Atrioventricular septal defect 41 test
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Autism 151 test
Autism, susceptibility to, X-linked 32 tests
Autoimmune disease, syndromic multisystem1 test
Autoimmune lymphoproliferative syndrome type 13 tests
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome, type 2A2 tests
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Azorean disease1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
BNAR syndrome1 test
Becker muscular dystrophy1 test
Benign Rolandic epilepsy1 test
Benign familial neonatal seizures 13 tests
Benign familial neonatal seizures 22 tests
Benign recurrent intrahepatic cholestasis type 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
Bilateral right-sidedness sequence1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Blau syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Branchiootic syndrome 11 test
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 21 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 41 test
Brugada syndrome 53 tests
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Candidiasis, familial, 21 test
Candidiasis, familial, 62 tests
Carcinoma of pancreas2 tests
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac conduction abnormalities1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 2b1 test
Carnitine palmitoyltransferase II deficiency, infantile1 test
Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
Carpal tunnel syndrome1 test
Cataract 16, multiple types2 tests
Catecholaminergic polymorphic ventricular tachycardia type 12 tests
Cd8 deficiency, familial1 test
Central core myopathy1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral folate transport deficiency1 test
Ceroid lipofuscinosis neuronal 21 test
Ceroid lipofuscinosis, neuronal, 111 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease, type 4J1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, progressive familial intrahepatic 12 tests
Christianson syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chédiak-Higashi syndrome1 test
Classic homocystinuria1 test
Cleft palate with or without ankyloglossia, X-linked1 test
Cognitive impairment with or without cerebellar ataxia1 test
Combined cellular and humoral immune defects with granulomas1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency2 tests
Combined immunodeficiency, X-linked1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 21 test
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 8, with autoimmunity1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital contractural arachnodactyly1 test
Congenital disorder of glycosylation, type Ia1 test
Congenital heart disease1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy, LMNA-related2 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myopathy with fiber type disproportion1 test
Conotruncal heart malformations1 test
Corpus callosum agenesis-abnormal genitalia syndrome2 tests
Costello syndrome1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Creatine transporter deficiency1 test
Cutis laxa, autosomal dominant 12 tests
DOORS syndrome3 tests
Danon disease1 test
Deafness, autosomal dominant 101 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of phosphoserine phosphatase2 tests
Developmental and epileptic encephalopathy 941 test
DiGeorge Syndrome1 test
Diabetes mellitus type 11 test
Diabetes mellitus, insulin-dependent, 103 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma2 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
Disorder of cardiovascular system1 test
Distal arthrogryposis type 1A1 test
Distal myopathy, Tateyama type2 tests
Duchenne muscular dystrophy1 test
Dystonia 94 tests
Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
EAST syndrome1 test
Early infantile epileptic encephalopathy 103 tests
Early infantile epileptic encephalopathy 113 tests
Early infantile epileptic encephalopathy 121 test
Early infantile epileptic encephalopathy 131 test
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 22 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 51 test
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 82 tests
Early infantile epileptic encephalopathy 93 tests
Early myoclonic encephalopathy2 tests
Ectopia lentis, isolated, autosomal dominant1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 41 test
Elevated circulating creatine kinase concentration2 tests
Elliptocytosis 11 test
Elliptocytosis 21 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence 51 test
Epilepsy, childhood absence 61 test
Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
Epilepsy, idiopathic generalized 102 tests
Epilepsy, idiopathic generalized 81 test
Epilepsy, idiopathic generalized 91 test
Epilepsy, idiopathic generalized, susceptibility to, 112 tests
Epilepsy, idiopathic generalized, susceptibility to, 124 tests
Epilepsy, juvenile absence, susceptibility to, 11 test
Epilepsy, juvenile myoclonic 51 test
Epilepsy, nocturnal frontal lobe, 52 tests
Epilepsy, nocturnal frontal lobe, type 12 tests
Epilepsy, nocturnal frontal lobe, type 32 tests
Epilepsy, nocturnal frontal lobe, type 41 test
Epilepsy, progressive myoclonic 32 tests
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 51 test
Epilepsy, progressive myoclonic 61 test
Epileptic encephalopathy, early infantile, 13 tests
Episodic ataxia type 11 test
Episodic ataxia type 23 tests
Episodic ataxia, type 51 test
Episodic kinesigenic dyskinesia 12 tests
FG syndrome 11 test
Fabry disease1 test
Familial Mediterranean fever2 tests
Familial acne inversa 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cold autoinflammatory syndrome 12 tests
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial febrile seizures 81 test
Familial hemiplegic migraine type 13 tests
Familial hemiplegic migraine type 21 test
Familial hemiplegic migraine type 33 tests
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hyperaldosteronism type 31 test
Familial hypertrophic cardiomyopathy 12 tests
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 112 tests
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 191 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 32 tests
Familial hypertrophic cardiomyopathy 42 tests
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial hypokalemia-hypomagnesemia1 test
Familial mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy 22 tests
Familial platelet disorder with associated myeloid malignancy1 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Familial temporal lobe epilepsy 11 test
Fanconi anemia, complementation group D11 test
Farber lipogranulomatosis1 test
Febrile seizures, familial, 41 test
Fibrous dysplasia of jaw1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Fraser syndrome 13 tests
Friedreich ataxia 11 test
Frontotemporal dementia1 test
GLUT1 deficiency syndrome 14 tests
GLUT1 deficiency syndrome 24 tests
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Gingival fibromatosis 11 test
Glioma susceptibility 31 test
Glycogen storage disease of heart, lethal congenital1 test
Graft-versus-host disease, susceptibility to1 test
Griscelli syndrome type 21 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Heart-hand syndrome, Slovenian type2 tests
Hemophagocytic lymphohistiocytosis, familial, 52 tests
Hereditary nonpolyposis colorectal cancer type 61 test
Hereditary pyropoikilocytosis1 test
Hereditary spastic paraplegia 21 test
Hermansky-Pudlak syndrome 21 test
Herpes simplex encephalitis 21 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Hirschsprung disease 31 test
Histiocytic medullary reticulosis1 test
Holt-Oram syndrome2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hutchinson-Gilford syndrome2 tests
Hydatidiform mole, recurrent, 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 13 tests
Hyper-IgM syndrome type 22 tests
Hyper-IgM syndrome type 32 tests
Hyper-IgM syndrome type 51 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hypertrichotic osteochondrodysplasia Cantu type2 tests
Hypertrophic cardiomyopathy 251 test
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypospadias 1, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 51 test
Idiopathic generalized epilepsy1 test
Immune deficiency disease1 test
Immunodeficiency 31C2 tests
Immunodeficiency 351 test
Immunodeficiency 512 tests
Immunodeficiency 81 test
Immunodeficiency due to defect in CD3-gamma1 test
Immunodeficiency due to defect in cd3-epsilon1 test
Immunoglobulin A deficiency 21 test
Immunoglobulin m, level of1 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
Indifference to pain, congenital, autosomal recessive2 tests
Infantile convulsions and choreoathetosis2 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
Inflammatory bowel disease 25, autosomal recessive2 tests
Inflammatory bowel disease 28, autosomal recessive2 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability1 test
Interleukin 2 receptor, alpha, deficiency of3 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 101 test
Juvenile myoclonic epilepsy1 test
Juvenile primary lateral sclerosis1 test
Kennedy disease1 test
Keratosis palmoplantaris striata II2 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lafora disease1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 61 test
Leptin deficiency or dysfunction1 test
Leptin receptor deficiency1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal tight skin contracture syndrome2 tests
Lig4 syndrome1 test
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Linear sebaceous nevus sequence1 test
Lissencephaly 2, X-linked2 tests
Lissencephaly, X-linked1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 52 tests
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 131 test
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 92 tests
Low phospholipid associated cholelithiasis1 test
Lung carcinoma1 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked2 tests
MASS syndrome1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Marfan syndrome1 test
Medulloblastoma1 test
Mental retardation 17, X-linked1 test
Mental retardation 30, X-linked1 test
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
Mental retardation, X-linked 721 test
Mental retardation, X-linked 961 test
Mental retardation, X-linked, syndromic 101 test
Mental retardation, X-linked, syndromic 132 tests
Mental retardation, X-linked, syndromic, Hedera type1 test
Mental retardation, X-linked, syndromic, wu type1 test
Mental retardation, autosomal dominant 11 test
Mental retardation, autosomal dominant 22 tests
Mental retardation, autosomal dominant 52 tests
Mental retardation, autosomal dominant 62 tests
Mental retardation, autosomal dominant 71 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
Mental retardation, with or without seizures, ARX-related, X-linked2 tests
Metachondromatosis1 test
Mevalonic aciduria1 test
Microvascular complications of diabetes 41 test
Minicore myopathy with external ophthalmoplegia1 test
Molybdenum cofactor deficiency, complementation group C1 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 41 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy, limb-girdle, type 2R3 tests
Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
Myoclonic epilepsy, familial infantile3 tests
Myoclonic epilepsy, juvenile 31 test
Myofibrillar myopathy 13 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related3 tests
Myofibrillar myopathy, filamin C-related2 tests
Myopathy1 test
Myopathy with postural muscle atrophy, X-linked2 tests
Myopathy, distal, 12 tests
Myopathy, distal, 42 tests
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, tubular aggregate, 11 test
Myosin storage myopathy2 tests
Naxos disease2 tests
Nemaline myopathy 12 tests
Nemaline myopathy 21 test
Nemaline myopathy 32 tests
Nemaline myopathy 42 tests
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Neonatal severe hyperparathyroidism1 test
Nephrogenic diabetes insipidus, X-linked1 test
Nephrogenic diabetes insipidus, autosomal1 test
Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Niemann-Pick disease type C11 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C21 test
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia5 tests
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 62 tests
Noonan syndrome 71 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Obesity1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome1 test
Oculotrichoanal syndrome1 test
Ohdo syndrome, X-linked1 test
Oligodontia-colorectal cancer syndrome1 test
Opioid dependence 11 test
Orofacial cleft 101 test
Orofacial cleft 6, susceptibility to1 test
Orofaciodigital syndrome I1 test
Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
Pancreatic cancer 21 test
Pancreatic cancer 41 test
Parkinson-dementia syndrome1 test
Parkinsonism with spasticity, X-linked1 test
Paroxysmal extreme pain disorder2 tests
Paroxysmal familial ventricular fibrillation 12 tests
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1 test
Partial androgen insensitivity syndrome1 test
Partington syndrome2 tests
Pelizaeus-Merzbacher disease1 test
Pheochromocytoma2 tests
Phosphoglycerate dehydrogenase deficiency1 test
Phosphoserine aminotransferase deficiency2 tests
Pick disease1 test
Pierson syndrome1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 11 test
Pitt-Hopkins-like syndrome 21 test
Polyglandular autoimmune syndrome, type 12 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Primary dilated cardiomyopathy1 test
Primary erythromelalgia2 tests
Progressive familial heart block, type 1A2 tests
Progressive familial intrahepatic cholestasis 22 tests
Progressive familial intrahepatic cholestasis 32 tests
Progressive myoclonus epilepsy with ataxia2 tests
Progressive supranuclear ophthalmoplegia1 test
Proteasome-associated autoinflammatory syndrome 12 tests
Purine-nucleoside phosphorylase deficiency1 test
Pustular psoriasis, generalized2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy3 tests
RAS-associated autoimmune leukoproliferative disorder2 tests
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, with hemolytic anemia1 test
Renpenning syndrome 11 test
Reticular dysgenesis1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Rett syndrome2 tests
Rett syndrome, congenital variant3 tests
Rh-null, regulator type1 test
Rippling muscle disease 22 tests
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked3 tests
SUDDEN INFANT DEATH SYNDROME2 tests
Scapuloperoneal myopathy, X-linked dominant2 tests
Schizophrenia 171 test
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 34 tests
Selective tooth agenesis 11 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency due to DCLRE1C deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2 tests
Severe myoclonic epilepsy in infancy4 tests
Severe neonatal-onset encephalopathy with microcephaly2 tests
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Sick sinus syndrome 1, autosomal recessive2 tests
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to2 tests
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome, type 21 test
Skin fragility-woolly hair-palmoplantar keratoderma syndrome2 tests
Somatotroph adenoma1 test
Spastic ataxia 5, autosomal recessive1 test
Spherocytosis type 11 test
Spherocytosis type 21 test
Spherocytosis type 31 test
Spherocytosis type 41 test
Spherocytosis type 51 test
Spheroid body myopathy2 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 63 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Stiff skin syndrome1 test
Supravalvar aortic stenosis2 tests
Syndactyly type 31 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Najm type1 test
Syndromic X-linked intellectual disability Snyder type1 test
Syndromic X-linked mental retardation, Cabezas type1 test
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Testicular anomalies with or without congenital heart disease1 test
Thrombocythemia 11 test
Thyroid cancer, nonmedullary, 21 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Transposition of the great arteries, dextro-looped 31 test
Tremor, hereditary essential, 41 test
Tricho-dento-osseous syndrome1 test
Trigonocephaly 21 test
Unverricht-Lundborg syndrome1 test
Usher syndrome, type 2C1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Velocardiofacial syndrome3 tests
Ventricular septal defect 11 test
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
Visceral heterotaxy 5, autosomal1 test
Von Hippel-Lindau syndrome1 test
Weill-Marchesani syndrome 21 test
Wilms tumor 11 test
Wiskott-Aldrich syndrome1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked intellectual disability-hypotonic face syndrome1 test
X-linked mental retardation with marfanoid habitus syndrome1 test
X-linked severe combined immunodeficiency2 tests
Yunis-Varon syndrome1 test
van der Woude syndrome 11 test
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